1.
Hemoglobin
; 31(3): 375-8, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17654075
RESUMO
A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.